Variant report

Variant	nsv1025234
Chromosome Location	chr9:9905178-10011184
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:9910391..9912203-chr9:9917426..9920377,2	K562	blood:
2	chr9:9910391..9912203-chr9:9917426..9920377,2	K562	blood:
3	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:
4	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:

Extended variants
information (count: 3433 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:3433 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7862769	chr9:9905178-9905179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148887041	chr9:9905181-9905182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529921160	chr9:9905193-9905194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72692727	chr9:9905213-9905214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563575317	chr9:9905252-9905253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547616342	chr9:9905256-9905257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532365073	chr9:9905268-9905269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529068330	chr9:9905283-9905284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549215377	chr9:9905297-9905298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552153505	chr9:9905324-9905325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559621885	chr9:9905331-9905332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568969707	chr9:9905343-9905344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112947960	chr9:9905377-9905378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548464494	chr9:9905378-9905379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552865496	chr9:9905383-9905384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568616734	chr9:9905408-9905409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534163984	chr9:9905425-9905426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142326374	chr9:9905445-9905446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543184286	chr9:9905473-9905474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538591970	chr9:9905494-9905495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183452937	chr9:9905504-9905505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544318211	chr9:9905515-9905516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186635916	chr9:9905524-9905525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191441404	chr9:9905557-9905558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182992809	chr9:9905571-9905572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559966005	chr9:9905573-9905574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370362869	chr9:9905596-9905597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34547353	chr9:9905620-9905621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576734234	chr9:9905653-9905654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114542387	chr9:9905684-9905685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562564458	chr9:9905685-9905686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531636001	chr9:9905717-9905718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374126319	chr9:9905721-9905722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548647642	chr9:9905751-9905752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555019705	chr9:9905779-9905780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188431115	chr9:9905804-9905805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11999385	chr9:9905809-9905810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs151280978	chr9:9905819-9905820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571120698	chr9:9905828-9905829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540154753	chr9:9905848-9905849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192870658	chr9:9905857-9905858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140508253	chr9:9905875-9905876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547620826	chr9:9905890-9905891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117163745	chr9:9905948-9905949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185392764	chr9:9905954-9905955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370834288	chr9:9905991-9905992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189023916	chr9:9906023-9906024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574449150	chr9:9906028-9906029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533944509	chr9:9906037-9906038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553564966	chr9:9906049-9906050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9884400-9908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:9902600-9907600	Enhancers	Primary hematopoietic stem cells	blood
3	chr9:9903400-9906200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr9:9904000-9905200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:9904400-9907600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:9904800-9907200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:9907200-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:9907600-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:9911000-9911600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:9911200-9911600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:9913200-9913800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr9:9913800-9914400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:9914400-9914600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:9914600-9915000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:9918600-9920800	Enhancers	Brain Germinal Matrix	brain
18	chr9:9919200-9920400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:9919200-9920400	Enhancers	Fetal Brain Male	brain
20	chr9:9919400-9919600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:9919400-9919800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:9919400-9919800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr9:9919400-9920400	Enhancers	Fetal Brain Female	brain
24	chr9:9919600-9920200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:9919800-9920000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr9:9919800-9920400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:9920000-9920200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr9:9920200-9921000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr9:9920200-9921000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr9:9920600-9921000	Enhancers	Brain Cingulate Gyrus	brain
31	chr9:9921000-9921200	Enhancers	Duodenum Mucosa	Duodenum
32	chr9:9922000-9922200	Enhancers	Primary hematopoietic stem cells	blood
33	chr9:9922000-9922400	Active TSS	Duodenum Mucosa	Duodenum
34	chr9:9922000-9924000	Enhancers	Small Intestine	intestine
35	chr9:9922000-9924200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:9922200-9924200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr9:9922400-9922600	Enhancers	Duodenum Mucosa	Duodenum
38	chr9:9922400-9924000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:9922600-9923600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr9:9923600-9924800	Active TSS	Duodenum Mucosa	Duodenum
41	chr9:9924000-9924400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:9924000-9924800	Active TSS	Primary T cells fromperipheralblood	blood
43	chr9:9924000-9924800	Active TSS	Fetal Lung	lung
44	chr9:9924000-9926800	Weak transcription	Small Intestine	intestine
45	chr9:9924200-9924400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr9:9924200-9924600	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr9:9924200-9924600	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr9:9924200-9924600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:9924200-9924600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr9:9924200-9924600	Active TSS	Rectal Mucosa Donor 31	rectum

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